Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747376_196747381delinsTTTTTT , CM000663.2:g.196747376_196747381delinsTTTTTT	GRCh38
NC_000001.10:g.196716506_196716511delinsTTTTTT , CM000663.1:g.196716506_196716511delinsTTTTTT	GRCh37
NC_000001.9:g.194983129_194983134delinsTTTTTT	NCBI36
NG_007259.1:g.100366_100371delinsTTTTTT , LRG_47:g.100366_100371delinsTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4787_4792delinsTTTTTT
ENST00000695970.1:c.63_68delinsTTTTTT	ENSP00000512297.1:n.63_68delinsTTTTTT
ENST00000695971.1:c.63_68delinsTTTTTT	ENSP00000512298.1:n.63_68delinsTTTTTT
ENST00000695972.1:c.836_841delinsTTTTTT	ENSP00000512299.1:n.836_841delinsTTTTTT
ENST00000695973.1:c.2123_2128delinsTTTTTT	ENSP00000512300.1:n.2123_2128delinsTTTTTT
ENST00000695974.1:c.63_68delinsTTTTTT	ENSP00000512301.1:n.63_68delinsTTTTTT
ENST00000695975.1:c.1886_1891delinsTTTTTT	ENSP00000512302.1:n.1886_1891delinsTTTTTT
ENST00000695976.1:c.63_68delinsTTTTTT	ENSP00000512303.1:n.63_68delinsTTTTTT
ENST00000695981.1:c.3580+179_3580+184delinsTTTTTT	ENSP00000512306.1:n.3580+179_3580+184delinsTTTTTT
ENST00000695984.1:c.63_68delinsTTTTTT	ENSP00000512309.1:n.63_68delinsTTTTTT
ENST00000695986.1:c.3410_3415delinsTTTTTT	ENSP00000512311.1:n.3410_3415delinsTTTTTT
ENST00000695990.1:n.793_798delinsTTTTTT
ENST00000696026.1:c.2041_2046delinsTTTTTT	ENSP00000512335.1:n.2041_2046delinsTTTTTT
ENST00000696027.1:c.63_68delinsTTTTTT	ENSP00000512336.1:n.63_68delinsTTTTTT
ENST00000696028.1:c.63_68delinsTTTTTT	ENSP00000512337.1:n.63_68delinsTTTTTT
ENST00000696029.1:c.63_68delinsTTTTTT	ENSP00000512338.1:n.63_68delinsTTTTTT
ENST00000696031.1:c.3277_3282delinsTTTTTT	ENSP00000512340.1:n.3277_3282delinsTTTTTT
ENST00000696032.1:c.3580+179_3580+184delinsTTTTTT	ENSP00000512341.1:n.3580+179_3580+184delinsTTTTTT
ENST00000696033.1:c.1160-32421_1160-32416delinsTTTTTT	ENSP00000512342.1:n.1160-32421_1160-32416delinsTTTTTT
ENST00000367429.9:c.63_68delinsTTTTTT MANE Select	ENSP00000356399.4:n.63_68delinsTTTTTT
ENST00000367429.8:c.63_68delinsTTTTTT	ENSP00000356399.4:n.63_68delinsTTTTTT
ENST00000466229.5:n.6857_6862delinsTTTTTT
NM_000186.3:c.63_68delinsTTTTTT , LRG_47t1:c.63_68delinsTTTTTT	NP_000177.2:n.63_68delinsTTTTTT
XR_001737134.2:n.3945_3950delinsTTTTTT
NM_000186.4:c.63_68delinsTTTTTT MANE Select	NP_000177.2:n.63_68delinsTTTTTT

HGVS	Amino-acid Change
ENST00000470918.2:n.4787_4792delinsTTTTTT
ENST00000695970.1:c.63_68delinsTTTTTT	ENSP00000512297.1:n.63_68delinsTTTTTT
ENST00000695971.1:c.63_68delinsTTTTTT	ENSP00000512298.1:n.63_68delinsTTTTTT
ENST00000695972.1:c.836_841delinsTTTTTT	ENSP00000512299.1:n.836_841delinsTTTTTT
ENST00000695973.1:c.2123_2128delinsTTTTTT	ENSP00000512300.1:n.2123_2128delinsTTTTTT
ENST00000695974.1:c.63_68delinsTTTTTT	ENSP00000512301.1:n.63_68delinsTTTTTT
ENST00000695975.1:c.1886_1891delinsTTTTTT	ENSP00000512302.1:n.1886_1891delinsTTTTTT
ENST00000695976.1:c.63_68delinsTTTTTT	ENSP00000512303.1:n.63_68delinsTTTTTT
ENST00000695981.1:c.3580+179_3580+184delinsTTTTTT	ENSP00000512306.1:n.3580+179_3580+184delinsTTTTTT
ENST00000695984.1:c.63_68delinsTTTTTT	ENSP00000512309.1:n.63_68delinsTTTTTT
ENST00000695986.1:c.3410_3415delinsTTTTTT	ENSP00000512311.1:n.3410_3415delinsTTTTTT
ENST00000695990.1:n.793_798delinsTTTTTT
ENST00000696026.1:c.2041_2046delinsTTTTTT	ENSP00000512335.1:n.2041_2046delinsTTTTTT
ENST00000696027.1:c.63_68delinsTTTTTT	ENSP00000512336.1:n.63_68delinsTTTTTT
ENST00000696028.1:c.63_68delinsTTTTTT	ENSP00000512337.1:n.63_68delinsTTTTTT
ENST00000696029.1:c.63_68delinsTTTTTT	ENSP00000512338.1:n.63_68delinsTTTTTT
ENST00000696031.1:c.3277_3282delinsTTTTTT	ENSP00000512340.1:n.3277_3282delinsTTTTTT
ENST00000696032.1:c.3580+179_3580+184delinsTTTTTT	ENSP00000512341.1:n.3580+179_3580+184delinsTTTTTT
ENST00000696033.1:c.1160-32421_1160-32416delinsTTTTTT	ENSP00000512342.1:n.1160-32421_1160-32416delinsTTTTTT
ENST00000367429.9:c.63_68delinsTTTTTT MANE Select	ENSP00000356399.4:n.63_68delinsTTTTTT
ENST00000367429.8:c.63_68delinsTTTTTT	ENSP00000356399.4:n.63_68delinsTTTTTT
ENST00000466229.5:n.6857_6862delinsTTTTTT
NM_000186.3:c.63_68delinsTTTTTT , LRG_47t1:c.63_68delinsTTTTTT	NP_000177.2:n.63_68delinsTTTTTT
XR_001737134.2:n.3945_3950delinsTTTTTT
NM_000186.4:c.63_68delinsTTTTTT MANE Select	NP_000177.2:n.63_68delinsTTTTTT